PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000025008	[[53535015, 53536419], [53537276, 53537347], [53540591, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598080], [53599412, 53599527], [53626634, 53626992]]	[[53536341, 53536419], [53537276, 53537347], [53540591, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598029]]
ENST00000435644	[[53535018, 53536419], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598080], [53599412, 53599527], [53626634, 53626983]]	[[53536341, 53536419], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598029]]
ENST00000521611	[[53535888, 53536031], [53599505, 53599527], [53626634, 53626997]]	None
ENST00000518710	[[53596163, 53596279], [53596446, 53596573], [53599412, 53599527], [53626634, 53626987]]	[[53596163, 53596279], [53596446, 53596488]]
ENST00000517963	[[53596247, 53596279], [53596446, 53596573], [53626634, 53627026]]	[[53596247, 53596279], [53596446, 53596573], [53626634, 53626693]]
ENST00000518211	[[53596509, 53596573], [53597958, 53598080], [53598496, 53598716], [53599412, 53599527], [53626634, 53627004]]	[[53599457, 53599527], [53626634, 53626693]]
ENST00000518468	[[53597983, 53598080], [53599412, 53599527], [53658108, 53658403]]	[[53597983, 53598029]]
ENST00000519912	[[53536143, 53536287], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548594]]	[[53536230, 53536287], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548594]]
ENST00000522957	[[53536273, 53536419], [53537276, 53537347], [53540591, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555803]]	None
ENST00000539297	[[53536341, 53536419], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598029]]	[[53536341, 53536419], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598029]]
ENST00000523594	[[53570444, 53570468], [53570557, 53570684], [53571432, 53571536], [53573485, 53573567], [53573654, 53573841], [53574094, 53574130]]	[[53571513, 53571536], [53573485, 53573567], [53573654, 53573841], [53574094, 53574130]]
NM_014781	[[53535017, 53536419], [53537276, 53537347], [53540591, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598080], [53599412, 53599527], [53626634, 53627026]]	[[53536341, 53536419], [53537276, 53537347], [53540591, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598029]]
NM_001083617	[[53535017, 53536419], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598080], [53599412, 53599527], [53626634, 53627026]]	[[53536341, 53536419], [53537276, 53537347], [53540600, 53540728], [53543029, 53543088], [53547480, 53547528], [53548574, 53548629], [53554910, 53555151], [53555263, 53555372], [53558261, 53558427], [53568567, 53570468], [53570557, 53570684], [53571432, 53571536], [53573155, 53573217], [53573485, 53573567], [53573654, 53573841], [53574094, 53574279], [53580580, 53580751], [53586404, 53586834], [53588928, 53589131], [53596108, 53596279], [53596446, 53596573], [53597958, 53598029]]

Promoter

Chrom	Start	End	Description
chr8	53556253	53556257	CAGE_peak_8_at_RB1CC1_5end
chr8	53569012	53569034	CAGE_peak_2_at_RB1CC1_5end
chr8	53626914	53626923	CAGE_peak_3_at_RB1CC1_5end
chr8	53626974	53627032	CAGE_peak_1_at_RB1CC1_5end
chr8	53658192	53658203	CAGE_peak_23_at_RB1CC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I052693	52693775	52696519	1.47	[{'connected_gene': 'RB1CC1', 'score': 7.97}, {'connected_gene': 'ST18', 'score': 5.83}, {'connected_gene': 'NPBWR1', 'score': 5.5}, {'connected_gene': 'LOC105375835', 'score': 0.37}, {'connected_gene': 'ALKAL1', 'score': 0.13}]
chr8	GH08I052628	52628643	52630281	0.82	[{'connected_gene': 'RB1CC1', 'score': 4.84}, {'connected_gene': 'ALKAL1', 'score': 0.21}, {'connected_gene': 'LOC105375835', 'score': 0.18}]
chr8	GH08I052783	52783421	52783630	0.2	[{'connected_gene': 'RB1CC1', 'score': 0.28}, {'connected_gene': 'NPBWR1', 'score': 0.1}]
chr8	GH08I052712	52712458	52715982	2.39	[{'connected_gene': 'RB1CC1', 'score': 563.36}, {'connected_gene': 'LOC105375835', 'score': 550.77}, {'connected_gene': 'GC08P052715', 'score': 550.77}, {'connected_gene': 'ALKAL1', 'score': 0.11}]
chr8	GH08I052754	52754281	52754410	0.65	[{'connected_gene': 'RB1CC1', 'score': 0.44}, {'connected_gene': 'LOC105375835', 'score': 0.26}, {'connected_gene': 'NPBWR1', 'score': 0.09}]
chr8	GH08I052737	52737201	52737350	0.52	[{'connected_gene': 'RB1CC1', 'score': 0.44}, {'connected_gene': 'GC08P052723', 'score': 0.39}, {'connected_gene': 'LOC105375835', 'score': 0.34}]
chr8	GH08I052742	52742876	52744211	0.6	[{'connected_gene': 'RB1CC1', 'score': 0.77}, {'connected_gene': 'GC08P052723', 'score': 0.34}, {'connected_gene': 'LOC105375835', 'score': 0.31}]
chr8	GH08I052459	52459742	52459865	0.22	[{'connected_gene': 'ST18', 'score': 550.77}, {'connected_gene': 'RB1CC1', 'score': 3.25}, {'connected_gene': 'GC08M052343', 'score': 0.34}]
chr8	GH08I052466	52466581	52468097	1.38	[{'connected_gene': 'ST18', 'score': 12.86}, {'connected_gene': 'ALKAL1', 'score': 4.7}, {'connected_gene': 'RB1CC1', 'score': 2.62}, {'connected_gene': 'GC08M052509', 'score': 0.26}]
chr8	GH08I052631	52631501	52631650	0.2	[{'connected_gene': 'ALKAL1', 'score': 0.2}, {'connected_gene': 'LOC105375835', 'score': 0.18}, {'connected_gene': 'RB1CC1', 'score': 0.14}]
chr8	GH08I052763	52763660	52765271	0.88	[{'connected_gene': 'NPBWR1', 'score': 4.76}, {'connected_gene': 'RB1CC1', 'score': 0.37}, {'connected_gene': 'LOC105375835', 'score': 0.23}]
chr8	GH08I052843	52843450	52844110	0.56	[{'connected_gene': 'NPBWR1', 'score': 0.16}, {'connected_gene': 'RB1CC1', 'score': 0.15}]
chr8	GH08I052817	52817748	52820340	0.56	[{'connected_gene': 'NPBWR1', 'score': 5.96}, {'connected_gene': 'RB1CC1', 'score': 0.19}]
chr8	GH08I052824	52824808	52826276	0.63	[{'connected_gene': 'NPBWR1', 'score': 9.87}, {'connected_gene': 'RB1CC1', 'score': 0.18}]
chr8	GH08I052793	52793261	52793410	0.31	[{'connected_gene': 'NPBWR1', 'score': 5.6}, {'connected_gene': 'RB1CC1', 'score': 0.25}]
chr8	GH08I052837	52837966	52839355	0.31	[{'connected_gene': 'NPBWR1', 'score': 5.98}, {'connected_gene': 'RB1CC1', 'score': 0.16}]
chr8	GH08I052711	52711601	52712200	0.38	[{'connected_gene': 'LOC105375835', 'score': 0.77}, {'connected_gene': 'RB1CC1', 'score': 0.29}, {'connected_gene': 'ALKAL1', 'score': 0.11}]
chr8	GH08I052653	52653981	52654705	0.31	[{'connected_gene': 'LOC105375835', 'score': 0.21}, {'connected_gene': 'ALKAL1', 'score': 0.17}, {'connected_gene': 'RB1CC1', 'score': 0.16}]
chr8	GH08I052782	52782636	52783408	0.38	[{'connected_gene': 'ENSG00000228801', 'score': 3.94}, {'connected_gene': 'RB1CC1', 'score': 0.28}, {'connected_gene': 'NPBWR1', 'score': 0.1}]